Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1990 1
1993 1
2006 2
2020 1
2021 2
2022 2
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

9 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Intellectual disability, autosomal dominant 46"
Page 1
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. ...Common clinical features identified in the cohort included: developmental del …
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized b …
Association of Alzheimer Disease With Life Expectancy in People With Down Syndrome.
Iulita MF, Garzón Chavez D, Klitgaard Christensen M, Valle Tamayo N, Plana-Ripoll O, Rasmussen SA, Roqué Figuls M, Alcolea D, Videla L, Barroeta I, Benejam B, Altuna M, Padilla C, Pegueroles J, Fernandez S, Belbin O, Carmona-Iragui M, Blesa R, Lleó A, Bejanin A, Fortea J. Iulita MF, et al. JAMA Netw Open. 2022 May 2;5(5):e2212910. doi: 10.1001/jamanetworkopen.2022.12910. JAMA Netw Open. 2022. PMID: 35604690 Free PMC article.
OBJECTIVE: To assess whether the variability in symptom onset of Alzheimer disease in Down syndrome is similar to autosomal dominant Alzheimer disease and to assess its association with mortality. ...The variability in disease onset was compared with that of auto …
OBJECTIVE: To assess whether the variability in symptom onset of Alzheimer disease in Down syndrome is similar to autosomal domina …
Cardio-facio-cutaneous syndrome with BRAF gene mutation: A case report and literature review.
Chen B, Chen S, Xiong J, Yin F. Chen B, et al. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021 Apr 28;46(4):432-437. doi: 10.11817/j.issn.1672-7347.2021.190756. Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2021. PMID: 33967092 Free PMC article. Review. Chinese, English.
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language an …
Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutat …
Comparison of tau spread in people with Down syndrome versus autosomal-dominant Alzheimer's disease: a cross-sectional study.
Wisch JK, McKay NS, Boerwinkle AH, Kennedy J, Flores S, Handen BL, Christian BT, Head E, Mapstone M, Rafii MS, O'Bryant SE, Price JC, Laymon CM, Krinsky-McHale SJ, Lai F, Rosas HD, Hartley SL, Zaman S, Lott IT, Tudorascu D, Zammit M, Brickman AM, Lee JH, Bird TD, Cohen A, Chrem P, Daniels A, Chhatwal JP, Cruchaga C, Ibanez L, Jucker M, Karch CM, Day GS, Lee JH, Levin J, Llibre-Guerra J, Li Y, Lopera F, Roh JH, Ringman JM, Supnet-Bell C, van Dyck CH, Xiong C, Wang G, Morris JC, McDade E, Bateman RJ, Benzinger TLS, Gordon BA, Ances BM; Alzheimer's Biomarker Consortium-Down syndrome; Dominantly Inherited Alzheimer Network. Wisch JK, et al. Lancet Neurol. 2024 May;23(5):500-510. doi: 10.1016/S1474-4422(24)00084-X. Lancet Neurol. 2024. PMID: 38631766
We compared the magnitude, spatial extent, and temporal ordering of tau spread in people with Down syndrome and autosomal-dominant Alzheimer's disease. METHODS: In this cross-sectional observational study, we included participants (aged 25 years) from two coh …
We compared the magnitude, spatial extent, and temporal ordering of tau spread in people with Down syndrome and autosomal-dominant …
Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region.
Ye XC, Roslin NM, Paterson AD, Lyons CJ, Pegado V, Richmond P, Shyr C, Fornes O, Han X, Higginson M, Ross CJ, Giaschi D, Gregory-Evans C, Patel MS, Wasserman WW. Ye XC, et al. J Med Genet. 2022 Jan;59(1):46-55. doi: 10.1136/jmedgenet-2020-107226. Epub 2020 Nov 30. J Med Genet. 2022. PMID: 33257509 Free PMC article.
The current study is based on a seven-generation family with isolated strabismus inherited in an autosomal dominant manner. A total of 13 individuals from a common ancestor have been included for linkage analysis. ...With the incorporation of next-generation sequenc …
The current study is based on a seven-generation family with isolated strabismus inherited in an autosomal dominant manner. A …
Phenotype associated with APP duplication in five families.
Cabrejo L, Guyant-Maréchal L, Laquerrière A, Vercelletto M, De la Fournière F, Thomas-Antérion C, Verny C, Letournel F, Pasquier F, Vital A, Checler F, Frebourg T, Campion D, Hannequin D. Cabrejo L, et al. Brain. 2006 Nov;129(Pt 11):2966-76. doi: 10.1093/brain/awl237. Epub 2006 Sep 7. Brain. 2006. PMID: 16959815
Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's disease (ADEOAD) and Abeta-related cerebral amyloid angiopathy (CAA). ...The phenotype was not dependent on the size of the duplication and …
Different duplications of the APP locus have been identified in five families with autosomal dominant early onset Alzheimer's …
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene.
Klopocki E, Neumann LM, Tönnies H, Ropers HH, Mundlos S, Ullmann R. Klopocki E, et al. Eur J Hum Genet. 2006 Dec;14(12):1274-9. doi: 10.1038/sj.ejhg.5201696. Epub 2006 Aug 9. Eur J Hum Genet. 2006. PMID: 16896345
Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. The condition is characterized by hypoplasia or aplasia of upper limbs on the ulnar side, mammary glands and nipples, and of apocrine glands in both sexes (MIM #181450). …
Ulnar-mammary syndrome (UMS) is a rare autosomal-dominant disorder caused by mutations in TBX3. The condition is characterized …
Sotos syndrome and de novo balanced autosomal translocation (t(3;6)(p21;p21)).
Schrander-Stumpel CT, Fryns JP, Hamers GG. Schrander-Stumpel CT, et al. Clin Genet. 1990 Mar;37(3):226-9. doi: 10.1111/j.1399-0004.1990.tb03507.x. Clin Genet. 1990. PMID: 2323093
In the Sotos syndrome autosomal dominant inheritance with variable expression has been documented. Here we discuss the importance of the cytogenetic findings and postulate a relationship between the invisible loss of chromosomal material at 3p21 and/or 6p21 and the …
In the Sotos syndrome autosomal dominant inheritance with variable expression has been documented. Here we discuss the importa …
Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy.
Jalal SM, Lindor NM, Michels VV, Buckley DD, Hoppe DA, Sarkar G, Dewald GW. Jalal SM, et al. Am J Med Genet. 1993 Jun 1;46(4):441-3. doi: 10.1002/ajmg.1320460419. Am J Med Genet. 1993. PMID: 8357018
Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by a trinucleotide (AGC) amplification at 19q13.3. ...Because amplification of a trinucleotide repeat is also associated with the observation of a fra(X)(q27.3) in the fragile X syndrome, …
Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by a trinucleotide (AGC) amplification at 19q13.3. ... …